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Clinical Question
Are mutations of the BRCA gene associated with an increased risk of developing colorectal cancer?
Bottom line
Although limited by a paucity of prospective data, this systematic review found no increased risk of colorectal cancer (CRC) among patients with mutations of BRCA1 or BRCA2. 2a
Reference
Study design: Meta-analysis (other)
Funding: Unknown/not stated
Setting: Various (meta-analysis)
Synopsis
These authors searched several databases to identify studies that explored the association between BRCA mutations and CRC. The authors don't describe the process of article selection or if the quality of studies were assessed independently by multiple authors. The authors anticipated specific BRCA mutations, age, sex, and Ashkenazi Jewish heritage as possible sources of heterogeneity and performed subgroup analyses. They included 11 studies of patients with confirmed BRCA1 or BRCA2 mutations: 7 cohort and 4 case-control studies. Only one of the studies was prospective. The individual studies were at low to moderate risk of bias. The studies included 14,252 participants, among whom 4831 cancers were detected. Since 5 of the studies only included Ashkenazi Jews, this group represented the majority of the patients. The authors found no association between any BRCA mutation and incident CRC (odds ratio [OR] 1.03; 95% CI 0.80 - 1.32). They identified a trend toward a modest increased risk with BRCA1 mutation carriers and CRC, but this was not statistically significant (OR 1.27; 0.91 - 1.76). Among patients with BRCA2 mutations, there was no increased risk of CRC (OR 1.10; 0.71 - 1.69). When adjusting for age, sex, or Ashkenazi Jewish descent, the relationships did not change. The authors found no statistical heterogeneity and no graphic evidence for publication bias.
Reviewer
Henry C. Barry, MD, MS
Professor
Michigan State University
East Lansing, MI
Comments
colonoscopy
BRCA mutation need not be one of the factors that determine who and when to scope.
Bottom line
The bottom line is not correct, since the authors found a modestly increased risk for CRC in BRCA1 mutation carriers, but the finding did not reach statistical significance. This is not the same as saying "no increased risk".